Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
0.010 GeneticVariation disease BEFREE Using αIIbβ3 integrin activation as a read-out, we demonstrate that platelet dysfunction in VWD (p.V1316M) type 2B affects PKC-mediated, but not CDGI-mediated, activation of Rap1. 29925524 2018